Leprosy is a disfiguring mycobacterial infection with a distinctive genetic signature in some human populations for either susceptibility or protection.
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Leprosy, caused by Mycobacterium leprae, occurs worldwide, but some individuals are more susceptible to the disease than others. Genes associated with leprosy have been mapped to the human leukocyte antigen (HLA) proteins, which are responsible for the regulation of the immune system. However, the HLA region is quite variable, and mapping specific disease-associated mutations is difficult. Dallmann-Sauer et al. have succeeded in sequencing, mapping, and genotyping 11 HLA genes in a case-control design of 1155 Vietnamese individuals. Four leprosy-associated amino acid variants were identified within these genes, which comprised two pairs of linked genes, with one set conferring susceptibility and one being protective. This study exemplifies how examination of underrepresented populations can help to identify genetic factors that may reveal vulnerabilities to disease around the world.
PLOS Pathog. 16, e1008818 (2020).